KEGG   Homo sapiens (human): 50628
Entry
50628             CDS       T01001                                 
Symbol
GEMIN4, HC56, HCAP1, HHRF-1, NEDMCR, p97
Name
(RefSeq) gem nuclear organelle associated protein 4
  KO
K13132  gem associated protein 4
Organism
hsa  Homo sapiens (human)
Disease
H02461  Neurodevelopmental disorder with microcephaly
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03041 Spliceosome [BR:hsa03041]
    50628 (GEMIN4)
Spliceosome [BR:hsa03041]
 Other splicing related proteins
  Proteins involved in snRNP biogenesis
   SMN complex factors
    50628 (GEMIN4)
SSDB
Other DBs
NCBI-GeneID: 50628
NCBI-ProteinID: NP_056536
OMIM: 606969
HGNC: 15717
Ensembl: ENSG00000179409
UniProt: P57678 Q8WUM5
Position
17:complement(744421..754410)
AA seq 1058 aa
MDLGPLNICEEMTILHGGFLLAEQLFHPKALAELTKSDWERVGRPIVEALREISSAAAHS
QPFAWKKKALIIIWAKVLQPHPVTPSDTETRWQEDLFFSVGNMIPTINHTILFELLKSLE
ASGLFIQLLMALPTTICHAELERFLEHVTVDTSAEDVAFFLDVWWEVMKHKGHPQDPLLS
QFSAMAHKYLPALDEFPHPPKRLRSDPDACPTMPLLAMLLRGLTQIQSRILGPGRKCCAL
ANLADMLTVFALTEDDPQEVSATVYLDKLATVISVWNSDTQNPYHQQALAEKVKEAERDV
SLTSLAKLPSETIFVGCEFLHHLLREWGEELQAVLRSSQGTSYDSYRLCDSLTSFSQNAT
LYLNRTSLSKEDRQVVSELAECVRDFLRKTSTVLKNRALEDITASIAMAVIQQKMDRHME
VCYIFASEKKWAFSDEWVACLGSNRALFRQPDLVLRLLETVIDVSTADRAIPESQIRQVI
HLILECYADLSLPGKNKVLAGILRSWGRKGLSEKLLAYVEGFQEDLNTTFNQLTQSASEQ
GLAKAVASVARLVIVHPEVTVKKMCSLAVVNLGTHKFLAQILTAFPALRFVEEQGPNSSA
TFMVSCLKETVWMKFSTPKEEKQFLELLNCLMSPVKPQGIPVAALLEPDEVLKEFVLPFL
RLDVEEVDLSLRIFIQTLEANACREEYWLQTCSPFPLLFSLCQLLDRFSKYWQLPKEKRC
LSLDRKDLAIHILELLCEIVSANAETFSPDVWIKSLSWLHRKLEQLDWTVGLRLKSFFEG
HFKCEVPATLFEICKLSEDEWTSQAHPGYGAGTGLLAWMECCCVSSGISERMLSLLVVDV
GNPEEVRLFSKGFLVALVQVMPWCSPQEWQRLHQLTRRLLEKQLLHVPYSLEYIQFVPLL
NLKPFAQELQLSVLFLRTFQFLCSHSCRDWLPLEGWNHVVKLLCGSLTRLLDSVRAIQAA
GPWVQGPEQDLTQEALFVYTQVFCHALHIMAMLHPEVCEPLYVLALETLTCYETLSKTNP
SVSSLLQRAHEQRFLKSIAEGIGPEERRQTLLQKMSSF
NT seq 3177 nt   +upstreamnt  +downstreamnt
atggacctaggacccttgaacatctgtgaagaaatgactattctgcatggaggcttcttg
ctggccgagcagctgttccaccctaaggcactggcagaattaacaaagtctgactgggaa
cgtgttggacggcccatcgtggaggccttaagggagatctcctcggctgcagcacactcc
cagccctttgcctggaagaagaaagccctgatcatcatctgggccaaggttctgcagccg
caccccgtgaccccgtccgacacagagacacggtggcaggaagacctgttcttctcggtg
ggcaacatgatccccaccatcaaccacaccatcctcttcgagctgctcaaatccctggaa
gcttctggactctttatccagctcctgatggccctgcccaccaccatctgccatgcagaa
ctagagcgctttctggaacatgtgaccgttgacacttctgccgaagacgtggccttcttc
ctggacgtctggtgggaggtgatgaagcacaagggtcacccgcaggaccccctgctctcc
cagtttagtgcaatggcccataagtacctgcctgccttagatgagttcccccatcctcca
aagaggcttaggtcagacccagacgcgtgccccaccatgcccctgttggccatgctgctc
cgcgggctgacacagatccagagtcggatcctgggcccggggaggaagtgctgtgcgctg
gccaacctggctgacatgctgactgtgtttgcgctgacagaggacgacccccaggaggtg
tctgcaaccgtgtatctggacaaactggccacggtgatctctgtgtggaactcggacacc
cagaatccctaccaccagcaggcgctggcagagaaggtgaaggaggcagaacgggatgtc
agcctgacctcgctggccaaactccccagtgagaccattttcgtgggctgcgagttcctg
caccacctgctgcgggagtggggggaggagttgcaggccgtgctccgcagcagccagggg
acaagttacgacagctaccggctgtgcgacagtctgacttccttcagccagaacgcgacg
ctctacctgaaccgcaccagcctgtccaaggaggacaggcaggtggtctctgagctggcg
gagtgtgtcagggacttcctgaggaaaacgagcacggtgctgaagaacagggccttggag
gatatcacagcttccattgccatggccgtcatccagcagaagatggaccgccatatggaa
gtgtgctacatttttgcctctgagaagaagtgggccttctcggacgagtgggtagcctgc
ctggggagtaacagggccctcttccgacagccagacttggtgttgaggctgctggaaaca
gtgatagacgtcagcacagctgacagagccatccctgagtctcagatccggcaggtgatc
cacctgatcctggaatgttacgcagacctctccctgccaggtaaaaataaagtccttgca
ggtatcctgcgttcctgggggcgaaagggcctctctgaaaagttgctggcttatgtggag
ggttttcaggaagacctcaatacaacttttaaccagctcactcagagtgcctccgaacag
ggcttggcaaaagctgtggcctccgtggcccgcctggtcatagtgcacccggaagtcacg
gtgaagaaaatgtgcagcctggctgtggtcaatctcggcacccacaagttcctggcccag
attctcactgccttccctgcccttaggtttgtggaagagcagggtcccaattcatctgcc
actttcatggtgtcatgcctcaaagaaaccgtctggatgaagttctctacacccaaggaa
gaaaagcaatttttagagctcctgaactgcctgatgagtcccgtgaaaccccaagggatt
ccagtggctgctcttcttgagccagacgaggtgctgaaggaatttgtcctgcctttcttg
aggttagatgttgaagaggtagacctcagtctgaggatcttcatccagactctagaggca
aacgcgtgccgagaggaatactggctccagacctgctccccgtttccactcctcttcagc
ttgtgccagctcttggaccgcttcagcaaatactggcagcttcccaaggagaagcggtgc
ctctctttggataggaaggatctagcgatccatatcctggagctcctgtgtgagattgta
tcagccaatgctgagaccttctccccggatgtctggatcaagtccctgtcctggctccac
cgcaagttagaacagctagactggactgtgggcctgaggctgaagagcttcttcgagggg
cacttcaagtgtgaagtgccagccacactttttgagatctgtaagctttcagaagacgag
tggacctcccaggcccacccagggtacggggctggcacggggctcctggcctggatggag
tgctgctgcgtctccagcggcatctcggagaggatgctgtctctcttggtggtggacgtg
ggcaatcctgaggaggtcagactgttcagcaaaggctttctggtggccctggtgcaagtc
atgccttggtgcagccctcaggagtggcagcgccttcaccagctgaccaggagactgctg
gagaagcagctcctccatgtcccttatagcctggaatatattcagtttgttcccctgctc
aacctgaagccctttgcccaggagttgcaactctccgtcctcttcctgaggactttccag
tttctctgcagccatagctgtcgtgattggcttcctctggaaggctggaaccacgtggtc
aaactcctctgtggcagtctgacccgcctcctggactcagtcagggcgatacaggcagct
ggcccttgggttcaaggaccagagcaggacctgacccaggaagccctgtttgtttacacc
caggtgttctgccatgctctgcacatcatggccatgctccacccggaggtctgtgagcca
ctctacgttttagccttggaaaccctcacctgctatgagactttgagcaagaccaaccct
tctgtcagctccttgctccagagggcacacgagcagcgcttcttaaagtccattgctgag
ggcatcggccctgaagaacggcgccaaaccctgttgcagaagatgagcagcttctga

  All links  
Ontology (2)   
   KEGG BRITE (2)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (26)   
   KEGG ORTHOLOGY (1)   
   RefGene (17)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (3)   
   OC (1)   
Protein sequence (18)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (15)   
DNA sequence (33)   
   RefSeq(nuc) (15)   
   GenBank (9)   
   EMBL (9)   
All databases (83)   

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